Maffucci syndrome

Maffucci syndrome is a rare, non-hereditary disorder characterized by the combination of multiple enchondromas (benign cartilaginous tumors within bones) and soft tissue vascular anomalies, predominantly spindle cell hemangiomas (previously called venous malformations or hemangiomas). The condition was first described by Angelo Maffucci in 1881. Enchondromas typically develop in the metaphyses and diaphyses of long bones, particularly in the hands and feet, but can affect any bone formed through endochondral ossification. The vascular lesions usually appear as bluish, compressible subcutaneous nodules on the fingers and extremities. Skeletal deformities, limb length discrepancies, and pathological fractures are common complications. Maffucci syndrome is caused by postzygotic (somatic) mosaic mutations in the IDH1 or IDH2 genes, which encode isocitrate dehydrogenase enzymes. Because the mutations arise after conception and are present only in affected tissues, the condition is not inherited and occurs sporadically. Symptoms typically become apparent during childhood or puberty, though onset can be variable. A major clinical concern is the significant risk of malignant transformation: enchondromas may progress to chondrosarcomas in approximately 15–30% of patients, and there is also an increased risk of other malignancies, including gliomas, ovarian tumors, and other neoplasms. There is no cure for Maffucci syndrome, and management is primarily symptomatic and supportive. Treatment involves orthopedic surveillance and surgical intervention for fractures, significant skeletal deformities, or lesions suspected of malignant transformation. Vascular lesions may be managed surgically or with sclerotherapy if they cause pain or functional impairment. Long-term monitoring with regular clinical and radiological follow-up is essential to detect malignant changes early. Genetic counseling can be offered to reassure patients that the condition is not expected to be transmitted to offspring.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Maffucci syndrome